基本信息:
- 专利标题: 백색 털 형질에 대한 신규 단일염기변이 마커
- 专利标题(英):Novel single nucleotide variation markers specific for white hair phenotype
- 专利标题(中):用于白发表型的新型单核苷酸变异标记
- 申请号:KR1020120113513 申请日:2012-10-12
- 公开(公告)号:KR101480207B1 公开(公告)日:2015-01-28
- 发明人: 박종화 , 조윤성 , 김학민 , 조성웅 , 고준수 , 한정훈 , 송상훈
- 申请人: 재단법인 게놈연구재단 , 주식회사 테라젠이텍스
- 申请人地址: 충청북도 청주시 흥덕구 오송읍 오송생명*로 ***-**, ***호(기업연구관*)
- 专利权人: 재단법인 게놈연구재단,주식회사 테라젠이텍스
- 当前专利权人: 재단법인 게놈연구재단,주식회사 테라젠이텍스
- 当前专利权人地址: 충청북도 청주시 흥덕구 오송읍 오송생명*로 ***-**, ***호(기업연구관*)
- 代理人: 특허법인충정
- 主分类号: C12Q1/68
- IPC分类号: C12Q1/68 ; C12N15/11 ; C12N15/52
The present invention or when as novel single base mutation (single nucleotide variation, SNVs) Marker (marker), specifically, a melanin synthesis-related enzyme targets of objects in the several species (species) Tie relates to a for white fur transfection agent ( tyrosinase, TYR) and dopa chrome mutual variation enzyme (dopachrome tautomerase, interspecies sequence for the amino acid sequence of the DCT) comparison (interspecific sequence comparison) to perform the Arg87Gln in baeksaja species specific TYR amino acid sequence of which the detected white hair transfected It relates to variations and Thr509Ala mutation SNVs specific (single nucleotide variations) on a white hair transformants containing the marker amino acid sequence of the DCT. SNVs marker according to the invention is transformed animal as well as in therapeutic development for several albinism novel target candidate for the (albinism) disorders including systemic albinism (oculocutaneous albinism) by providing the genetic information relating to the white hair transfected animal It can be widely utilized species such as improved over the control.
公开/授权文献:
- KR1020140049120A 백색 털 형질에 대한 신규 단일염기변이 마커 公开/授权日:2014-04-25